ClinVar Miner

Submissions for variant NM_203447.4(DOCK8):c.2563G>A (p.Val855Ile)

gnomAD frequency: 0.00001  dbSNP: rs368921839
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001208216 SCV001379593 uncertain significance Combined immunodeficiency due to DOCK8 deficiency 2021-10-28 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 855 of the DOCK8 protein (p.Val855Ile). This variant is present in population databases (rs368921839, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with DOCK8-related conditions. ClinVar contains an entry for this variant (Variation ID: 938914). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV004978104 SCV005575514 uncertain significance Inborn genetic diseases 2024-12-04 criteria provided, single submitter clinical testing The c.2563G>A (p.V855I) alteration is located in exon 21 (coding exon 21) of the DOCK8 gene. This alteration results from a G to A substitution at nucleotide position 2563, causing the valine (V) at amino acid position 855 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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